ClinVar Miner

Submissions for variant NC_000006.11:g.(?_51701182)_(51701287_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003123098 SCV003796332 pathogenic Autosomal recessive polycystic kidney disease 2022-10-07 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 51 of the PKHD1 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. A similar copy number variant has been observed in individual(s) with polycystic kidney disease (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. For these reasons, this variant has been classified as Pathogenic.

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